MCID: FML015
MIFTS: 42

Familial Nephrotic Syndrome

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Immune diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Familial Nephrotic Syndrome

MalaCards integrated aliases for Familial Nephrotic Syndrome:

Name: Familial Nephrotic Syndrome 39 12 26 15
Congenital Nephrotic Syndrome 12 77 26
Finnish Congenital Nephrotic Syndrome 74
Nephrosis, Congenital 74

Classifications:



External Ids:

Disease Ontology 12 DOID:2590
MeSH 45 C535761
NCIt 51 C35337
SNOMED-CT 69 48796009
ICD10 34 N04

Summaries for Familial Nephrotic Syndrome

Disease Ontology : 12 A nephrotic syndrome that has material basis in genetic mutations.

MalaCards based summary : Familial Nephrotic Syndrome, also known as congenital nephrotic syndrome, is related to nephrotic syndrome, type 6 and nephrotic syndrome, type 1, and has symptoms including edema An important gene associated with Familial Nephrotic Syndrome is PLCE1 (Phospholipase C Epsilon 1), and among its related pathways/superpathways are Cell junction organization and Primary Focal Segmental Glomerulosclerosis FSGS. Affiliated tissues include Kidney, kidney and placenta, and related phenotypes are cardiovascular system and growth/size/body region

Wikipedia : 77 Congenital nephrotic syndrome is a rare kidney disease which manifests in infants during the first 3... more...

Related Diseases for Familial Nephrotic Syndrome

Diseases in the Nephrotic Syndrome family:

Nephrotic Syndrome, Type 1 Nephrotic Syndrome, Type 4
Nephrotic Syndrome, Type 2 Nephrotic Syndrome, Type 3
Nephrotic Syndrome, Type 6 Nephrotic Syndrome, Type 7
Nephrotic Syndrome, Type 8 Nephrotic Syndrome, Type 9
Nephrotic Syndrome, Type 10 Nephrotic Syndrome, Type 11
Nephrotic Syndrome, Type 12 Nephrotic Syndrome, Type 13
Nephrotic Syndrome, Type 14 Nephrotic Syndrome, Type 15
Nephrotic Syndrome, Type 16 Nephrotic Syndrome, Type 17
Nephrotic Syndrome, Type 18 Nephrotic Syndrome, Type 19
Familial Nephrotic Syndrome

Diseases related to Familial Nephrotic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 nephrotic syndrome, type 6 31.3 NPHS1 NPHS2 PLCE1 WT1
2 nephrotic syndrome, type 1 30.9 ACTN4 CD2AP NPHS1 NPHS2 WT1
3 diffuse mesangial sclerosis 29.9 NPHS1 NPHS2 PLCE1 WT1
4 focal segmental glomerulosclerosis 1 29.7 ACTN4 NPHS1
5 denys-drash syndrome 29.5 CD2AP NPHS1 NPHS2 WT1
6 nephrotic syndrome 28.8 ACTN4 CD2AP NPHS1 NPHS2 PLCE1 SGPL1
7 kidney disease 28.5 ACTN4 CD2AP CRB2 NPHS1 NPHS2 WT1
8 focal segmental glomerulosclerosis 27.7 ACTN4 CD2AP CRB2 KIRREL2 NPHS1 NPHS2
9 congenital nephrotic syndrome finnish type 12.6
10 pierson syndrome 12.1
11 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 11.7
12 nephrotic syndrome, type 4 11.0
13 nephrotic syndrome, type 2 11.0
14 nephrotic syndrome, type 3 11.0
15 nephrotic syndrome, type 5, with or without ocular abnormalities 11.0
16 nephrotic syndrome, type 7 11.0
17 nephrotic syndrome, type 8 11.0
18 nephrotic syndrome, type 9 11.0
19 nephrotic syndrome, type 10 11.0
20 nephrotic syndrome, type 11 11.0
21 nephrotic syndrome, type 12 11.0
22 nephrotic syndrome, type 13 11.0
23 nephrotic syndrome, type 14 11.0
24 nephrotic syndrome, type 15 11.0
25 nephrotic syndrome, type 16 11.0
26 nephrotic syndrome, type 17 11.0
27 nephrotic syndrome, type 18 11.0
28 nephrotic syndrome, type 19 11.0
29 microcoria, congenital 11.0
30 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 10.2 CD2AP NPHS2
31 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 10.2 PLCE1 WT1
32 kidney hypertrophy 10.2 NPHS1 NPHS2
33 thrombosis 10.1
34 hypothyroidism 10.1
35 nail-patella syndrome 10.1 CD2AP NPHS2
36 nephrosclerosis 10.1 NPHS1 NPHS2
37 atrial septal defect 3 10.0 CD2AP NPHS1 NPHS2
38 lipoid nephrosis 10.0 CD2AP NPHS1 NPHS2
39 hypoparathyroidism, sensorineural deafness, and renal disease 10.0 ACTN4 NPHS1 NPHS2
40 microcephaly 10.0
41 membranous nephropathy 10.0 CD2AP NPHS1 NPHS2
42 galloway-mowat syndrome 10.0 ACTN4 NPHS1 NPHS2
43 crescentic glomerulonephritis 9.9 NPHS2 WT1
44 urinary system disease 9.9 NPHS1 NPHS2 WT1
45 systemic lupus erythematosus 9.9
46 gonadal dysgenesis 9.9
47 lupus erythematosus 9.9
48 cytomegalovirus infection 9.9
49 iga glomerulonephritis 9.9 NPHS1 NPHS2
50 wilms tumor 1 9.9 NPHS1 NPHS2 WT1

Graphical network of the top 20 diseases related to Familial Nephrotic Syndrome:



Diseases related to Familial Nephrotic Syndrome

Symptoms & Phenotypes for Familial Nephrotic Syndrome

UMLS symptoms related to Familial Nephrotic Syndrome:


edema

MGI Mouse Phenotypes related to Familial Nephrotic Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 ACTN4 CD2AP CRB2 NPHS2 PLCE1 SGPL1
2 growth/size/body region MP:0005378 9.7 ACTN4 CD2AP CRB2 KIRREL3 NPHS2 SGPL1
3 homeostasis/metabolism MP:0005376 9.5 ACTN4 CD2AP NPHS1 NPHS2 PLCE1 SGPL1
4 renal/urinary system MP:0005367 9.1 ACTN4 CD2AP NPHS1 NPHS2 SGPL1 WT1

Drugs & Therapeutics for Familial Nephrotic Syndrome

Search Clinical Trials , NIH Clinical Center for Familial Nephrotic Syndrome

Genetic Tests for Familial Nephrotic Syndrome

Anatomical Context for Familial Nephrotic Syndrome

MalaCards organs/tissues related to Familial Nephrotic Syndrome:

42
Kidney, Placenta, Thyroid, Pituitary, Cortex
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Familial Nephrotic Syndrome:
# Tissue Anatomical CompartmentCell Relevance
1 Kidney Podocyte Layer Podocytes Affected by disease, potential therapeutic candidate

Publications for Familial Nephrotic Syndrome

Articles related to Familial Nephrotic Syndrome:

(show top 50) (show all 225)
# Title Authors Year
1
Treatment and outcome of congenital nephrotic syndrome. ( 29474669 )
2019
2
Management of children with congenital nephrotic syndrome: challenging treatment paradigms. ( 30215773 )
2018
3
Infants with congenital nephrotic syndrome have comparable outcomes to infants with other renal diseases. ( 30374605 )
2018
4
Gene mutation analysis in 12 Chinese children with congenital nephrotic syndrome. ( 30594156 )
2018
5
Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1. ( 29663071 )
2018
6
Auto-immune Thyroiditis in an Infant Masquerading as Congenital Nephrotic Syndrome. ( 30128632 )
2018
7
Long-term outcome of congenital nephrotic syndrome after kidney transplantation in Japan. ( 29185126 )
2018
8
Bilateral pulmonary thrombosis in a newborn with congenital nephrotic syndrome. ( 29469202 )
2018
9
Erratum to: Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations. ( 28818041 )
2017
10
Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome. ( 28392951 )
2017
11
Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations. ( 28683731 )
2017
12
Vomiting in an infant with congenital nephrotic syndrome: Questions. ( 27757585 )
2017
13
Vomiting in infant with congenital nephrotic syndrome: Answers. ( 27757586 )
2017
14
Novel NPHS1 Gene Mutations in two Chinese Infants with Congenital Nephrotic Syndrome. ( 28160156 )
2017
15
The etiology of congenital nephrotic syndrome: current status and challenges. ( 26961288 )
2016
16
Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report. ( 27004562 )
2016
17
Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome. ( 27019444 )
2016
18
Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation. ( 27325525 )
2016
19
Sonographic Diagnosis in a Rare Aetiology of Neonatal Scrotal Swellings: A Case Report of Congenital Nephrotic Syndrome. ( 27757175 )
2016
20
Recurrence of nephrotic syndrome following kidney transplantation in a child with congenital nephrotic syndrome. ( 26787584 )
2016
21
Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Questions. ( 25947087 )
2016
22
Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers. ( 25956699 )
2016
23
Domiciliary administration of intravenous albumin in congenital nephrotic syndrome. ( 26248471 )
2015
24
AJKD Atlas of Renal Pathology: Congenital Nephrotic Syndrome of Finnish Type. ( 26300201 )
2015
25
Bioinformatics evaluation of NPHS2 deletion mutation associated with congenital nephrotic syndrome in a consanguineous Pakistani family. ( 25143137 )
2015
26
Response to childhood immunizations in congenital nephrotic syndrome. ( 25208314 )
2015
27
Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort. ( 25635037 )
2015
28
Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome. ( 25729976 )
2015
29
Diagnosis of peritoneal-pleural communication by peritoneography with (99m)Tc-sulfur colloid in a 3-year-old girl with congenital nephrotic syndrome of the Finnish type. ( 24816127 )
2015
30
Thrombotic complications of neonates and children with congenital nephrotic syndrome. ( 25088336 )
2014
31
Adrenal insufficiency in association with congenital nephrotic syndrome: a case report. ( 24633749 )
2014
32
Multigene involvement in congenital nephrotic syndrome. ( 24658205 )
2014
33
Congenital nephrotic syndrome and recurrence of proteinuria after renal transplantation. ( 24682440 )
2014
34
Congenital nephrotic syndrome with acute renal failure: questions. ( 21607629 )
2012
35
Discordant expression of a new WT1 gene mutation in a family with monozygotic twins presenting with congenital nephrotic syndrome. ( 21614510 )
2012
36
Rituximab treatment for recurrence of nephrotic syndrome in a pediatric patient after renal transplantation for congenital nephrotic syndrome of Finnish type. ( 21672106 )
2012
37
Severe immune haemolytic anaemia due to ceftriaxone in a patient with congenital nephrotic syndrome. ( 21450013 )
2011
38
A missense LAMB2 mutation causes congenital nephrotic syndrome by impairing laminin secretion. ( 21511833 )
2011
39
Anemia in congenital nephrotic syndrome: role of urinary copper and ceruloplasmin loss. ( 21636722 )
2011
40
Cardiac findings in congenital nephrotic syndrome. ( 24250960 )
2011
41
Cytomegalovirus infection and haemophagocytosis in a patient with congenital nephrotic syndrome. ( 19603193 )
2009
42
Peritubular capillaries are rarefied in congenital nephrotic syndrome of the Finnish type. ( 19225555 )
2009
43
Congenital nephrotic syndrome, an uncommon presentation of cytomegalovirus infection. ( 18626461 )
2008
44
Congenital nephrotic syndrome of the finnish type. ( 18560552 )
2008
45
Congenital nephrotic syndrome and persistent hypothyroidism after bilateral nephrectomy. ( 18717247 )
2008
46
Congenital nephrotic syndrome masquerading as respiratory illness. ( 18841537 )
2008
47
A new case of Finnish-type congenital nephrotic syndrome, neuromuscular symptoms and early death. ( 25983905 )
2008
48
Glomerular endothelium in kidneys with congenital nephrotic syndrome of the Finnish type (NPHS1). ( 18048423 )
2008
49
Familial nephrotic syndrome: PLCE1 enters the fray. ( 17449496 )
2007
50
Congenital nephrotic syndrome. ( 17285887 )
2007

Variations for Familial Nephrotic Syndrome

Expression for Familial Nephrotic Syndrome

Search GEO for disease gene expression data for Familial Nephrotic Syndrome.

Pathways for Familial Nephrotic Syndrome

GO Terms for Familial Nephrotic Syndrome

Cellular components related to Familial Nephrotic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.46 ACTN4 CD2AP CRB2 NPHS2
2 cell-cell junction GO:0005911 9.26 ACTN4 CD2AP KIRREL2 NPHS2
3 slit diaphragm GO:0036057 8.8 KIRREL2 NPHS1 NPHS2

Biological processes related to Familial Nephrotic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hemopoiesis GO:0030097 9.32 KIRREL3 SGPL1
2 vasculogenesis GO:0001570 9.26 SGPL1 WT1
3 excretion GO:0007588 9.16 NPHS1 NPHS2
4 glomerular basement membrane development GO:0032836 8.96 NPHS1 WT1
5 glomerulus development GO:0032835 8.62 PLCE1 WT1

Sources for Familial Nephrotic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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